Variant: rs140430952 

    present in Gene: TGDS
    present in Chromosome: 13
    Position on Chromosome: 94590868
    Alleles of this Variant: C/A;T

rs140430952 in TGDS gene and Catel Manzke syndrome PMID 25480037 2014 Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

rs140430952 in TGDS gene and Multiple congenital anomalies PMID 21834032 2011 Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

PMID 28422407 2017 Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

PMID 25480037 2014 Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

PMID 26366375 2015 Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

PMID 14564220 2003 Catel-Manzke syndrome without cleft palate: a case report.

PMID 24326962 2013 A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome.

PMID 18501694 2008 Catel-Manzke syndrome: two new patients and a critical review of the literature.